Abstract
Trimethylaminuria (TMAU), colloquially known as fish odour syndrome, is a rare metabolic disorder characterised by the body’s inability to properly metabolise Trimethylamine (TMA), resulting in a distinctive and unpleasant fishy odour in bodily secretions. This comprehensive review explores the pathophysiology, clinical manifestations, genetic basis, diagnostic challenges, and psychological impact of TMAU, along with management strategies. Genetic mutations affecting the flavin-containing monooxygenase 3 (FMO3) enzyme, which is responsible for TMA metabolism, contribute to the condition’s hereditary nature. Diagnosis can be challenging due to intermittent symptoms and overlaps with other conditions, such as Olfactory Reference Syndrome (ORS). The psychosocial impact of TMAU can be profound, leading to embarrassment, social isolation, and mental health issues. Management strategies include dietary modifications, supplements, antibiotics, and hygiene measures to alleviate symptoms. Despite advances in understanding TMAU, further research is needed to enhance diagnostic accuracy and therapeutic approaches, ultimately improving the quality of life for affected individuals.
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